{"Name":"Apparent mineralocorticoid excess","DiseaseID__c":"GARD:0000433","id":433,"encodedName":"apparent-mineralocorticoid-excess","IsDeleted":false,"Disease_Name_Full__c":"Apparent mineralocorticoid excess","Xref_IDs__c":"237770005; 703256004; C0342488; C123231; C131083; C537422; D043204; DOID:4367; MEDGEN:90983; MONDO:0009025; OMIM:218030; ORPHA:320","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009025","Disease_Description__c":"A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.","GARD_Name__c":"Apparent mineralocorticoid excess","GARD_Synonym__c":"11 beta-hydroxysteroid dehydrogenase type 2 deficiency; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; ame; ame - apparent mineralocorticoid excess; ape; apparent mineralocorticoid excess syndrome; cortisol 11-beta-ketoreductase deficiency; syndrome of apparent mineralocorticoid excess; ulick syndrome","Curated_Disease_Description_Source__c":"MONDO:0009025","Curated_Disease_Description__c":"A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:320","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009025","ORPHANET_ID__c":"ORPHA:320","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Exceso aparente de mineralocorticoides","Spanish_Description_Source__c":"ORPHA:320","Spanish_Description__c":"Es una forma poco frecuente de pseudohiperaldosteronismo, que se inicia habitualmente en la primera infancia, caracterizada generalmente con un cuadro clínico de hipertensión arterial grave y que se asocia con niveles bajos de renina y de aldosterona.","Spanish_Disease_Name__c":"exceso aparente de mineralocorticoides","Spanish_GARD_Synonym__c":"deficiencia de 11-beta-hidroxiesteroide-deshidrogenasa; síndrome de ulick","Category_Linearization__c":"ORPHA:97978","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.","Curated_Disease_Description_Source__c":"MONDO:0009025","GARD_Synonym__c":"11 beta-hydroxysteroid dehydrogenase type 2 deficiency; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; ame; ame - apparent mineralocorticoid excess; ape; apparent mineralocorticoid excess syndrome; cortisol 11-beta-ketoreductase deficiency; syndrome of apparent mineralocorticoid excess; ulick syndrome","Name":"Apparent mineralocorticoid excess","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:320"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:320"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3887949"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000433","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342488","Source__c":"C0342488","Xref__c":"C0342488"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537422","Source__c":"MONDO:0009025","Xref__c":"C537422"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=90983","Source__c":"C0342488","Xref__c":"MEDGEN:90983"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4367","Source__c":"MONDO:0009025","Xref__c":"DOID:4367"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703256004","Source__c":"MONDO:0009025","Xref__c":"703256004"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123231","Source__c":"C0342488; MONDO:0009025","Xref__c":"C123231"},{"URL__c":"https://www.orpha.net/en/disease/detail/320","Source__c":"C0342488; MONDO:0009025; ORPHA:320","Xref__c":"ORPHA:320"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131083","Source__c":"MONDO:0009025","Xref__c":"C131083"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C043204","Source__c":"C0342488; MONDO:0009025","Xref__c":"D043204"},{"URL__c":"https://www.omim.org/entry/218030","Source__c":"C0342488; MONDO:0009025; ORPHA:320","Xref__c":"OMIM:218030"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237770005","Source__c":"C0342488; MONDO:0009025","Xref__c":"237770005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009025","Source__c":"GARD:0000433","Xref__c":"MONDO:0009025"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HSD11B2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:320","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased potassium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002900","HPO_Synonym__c":"Low blood potassium levels","HPO_Name__c":"Hypokalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:320","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the concentration of cortisol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011731","HPO_Name__c":"Abnormality of circulating cortisol level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally reduced levels of aldosterone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004319","HPO_Synonym__c":"Decreased aldosterone; Decreased aldosterone production; Decreased serum aldosterone; Hypoaldosteronism; Low blood aldosterone level; Mineralocorticoid insufficiency","HPO_Name__c":"Decreased circulating aldosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001297","HPO_Synonym__c":"Cerebral vascular events; Cerebrovascular accident; Stroke","HPO_Name__c":"Stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive thirst manifested by excessive fluid intake.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001959","HPO_Synonym__c":"Extreme thirst","HPO_Name__c":"Polydipsia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal concentration of sodium in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012603","HPO_Synonym__c":"Abnormal urine Na concentration; Abnormal urine Na+ levels","HPO_Name__c":"Abnormal urine sodium concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An decreased level of renin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003351","HPO_Synonym__c":"Decreased circulating renin level; Decreased plasma renin activity; Low plasma renin activity; Suppressed plasma renin activity","HPO_Name__c":"Decreased circulating renin concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Enlargement or increased size of the heart left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001712","HPO_Synonym__c":"Heart left ventricle hypertrophy; Left ventricular wall hypertrophy","HPO_Name__c":"Left ventricular hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000121","HPO_Synonym__c":"Too much calcium deposited in kidneys","HPO_Name__c":"Nephrocalcinosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001960","HPO_Name__c":"Hypokalemic metabolic alkalosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:320","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormally increased sodium concentration in the urine in the presence of hyponatremia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012606","HPO_Synonym__c":"Kidney sodium wasting; Renal Na wasting; Renal Na+ wasting","HPO_Name__c":"Renal sodium wasting","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Condition of the retina, secondary to severe systemic arterial hypertension which can be acute or longstanding. Features include one or several of the following: retinal vascular tortuosity, arteriovenous crossing signs, retinal cotton wool spot and intraretinal hemorrhages. It can be associated with optic disc swelling.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001095","HPO_Name__c":"Hypertensive retinopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Endocrine"],"Specialist":["Genetics","Nephrology","Endocrine","Pediatrics"],"Account":["Nephrology"]},"synonyms":["11 beta-hydroxysteroid dehydrogenase type 2 deficiency"," 11-beta-hydroxysteroid dehydrogenase deficiency type 2"," ame"," ame - apparent mineralocorticoid excess"," ape"," apparent mineralocorticoid excess syndrome"," cortisol 11-beta-ketoreductase deficiency"," syndrome of apparent mineralocorticoid excess"," ulick syndrome"]}